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April 30, 2013

We took Bertrand's beloved Miss A to the zoo today, and that's where he did part of his physical therapy! He practiced balance and sitting on many surfaces. Both kids had a blast. Buddy could've ridden the carousel 10 more times if we let him. And Victoria is now convinced that all animals love to play in the water. (On our walk later today she was chatting up random strangers about bears in water. And, at bath time I had to stop her from dumping a bunch of beanie baby bears into the tub.)

Sadly, Victoria accidentally deleted several photos and videos off my phone as she was watching a clip of Bertrand and herself with the swimming polar bear. While she had probably seen it close to 100 times, she was devastated to lose the video. We'll just have to go back to the zoo and take more footage! And you'll just have to settle for this handful of photos. :)

The zoo currently has an exhibit of Lego Animals all over the park. (Miss A and I kept asking ourselves, "How long would it take to build that?!") If you have a child who loves Legos, they would probably love to check it out.

April 29, 2013

This evening, Matthew and I watched the sunset from our house. The sky was brilliant with orange and purple above the sparkling city below. We watched the capitol building glow and the twinkling lights of downtown come alive.

The city view from our bedroom will soon be partially obscured by the leaves of a 150 year-old Elm in our front yard. I love watching and listening to the birds in that tree as much, if not more than, the views of the city.

Last Friday, we met with a realtor to discuss finding a new, more accessible home. Bertrand is only getting bigger and the cost to rehabilitate our current home for his (and our backs') benefit is substantial. Before we make a major and costly decision, we're thoroughly evaluating all the options from various ways of fixing our current home to moving.

There are many factors to consider. The ones that we and perhaps most people tend to focus on are the ones which are easily quantified, such as the cost of a commute (cost of a new car, hours in a car, maintenance, gas, parking passes, etc.). Then there are related variables (opportunity costs) such as "extra time spent away from family". How do you value that?

Or how about being only 3 minutes away from the main children's hospital? ...especially when you have a child like Bertrand? In even ONE emergency situation, how much would that be worth?

How do you value the joy of your very first home? Your children's first home? Your memories? Your dreams?

Tonight, as I looked down at the sparkling city and spied swollen leaf buds on the Elm, my suspicion was that these intangibles are undervalued.

"Not everything that counts can be counted, and not everything that can be counted counts."

April 23, 2013

April 22, 2013

Looking back, there are several things I wish I had done differently with Bertrand. Despite having experts at our disposal, limited knowledge and limited time--mine and that of the experts--kept Bertrand from simple improvements to his well-being.

Everyone mentions the importance of weight bearing through the legs. Every doctor and therapist emphasized standing from an early age. *No one* emphasized weight-bearing through arms. Maybe I could've figured that out myself, but at the time I was drinking from the figurative fire hose.

Five years later, my son has malformed forearms. (I lovingly call them his little chicken wings or t-rex arms.) It's nothing overly obvious, but it is an impediment to proper and full use of his arms now. And the window for fixing them is pretty much closed. Although you better believe we make sure he weight bears through them now!

That brings me to an email I received this morning:

"I have a question regarding mobility devices. My son is at the point where the stroller we purchased before he was born is no longer suitable for his low tone or his growth spurts. He is still only 17 months old and would fit in just a regular stroller but the ones I have been looking at are in the $200+ range and honestly will only be useful until he gets to a certain height or weight that is lower than I would have liked. I have an appointment with the Wheelchair Clinic on May 14th but from what I gather is that they will try to bill my insurance and I really do not want this to happen since I know my insurance will only cover one mobility device in a 5 year time frame. I do not think my son is at the point for a wheel chair yet but a special needs stroller would be really nice to have. I am so lost when it comes to all of this. When I google it I am bombarded with hundreds of options and really expensive prices and have no idea what would be the best option to make for right now and to use until he needs a wheelchair (which he will most likely will in the future). Do you have any thoughts or opinions on all of this?"

People with great experience in mobility devices read this blog, so please comment if you can. :)

Briefly, the mom above has an adorable son with low tone and global developmental delay. I can only comment on the mobility solutions that we adopted for Bertrand, and not all of those were good. With mobility devices there is simultaneously a ton of information and almost none at all for parents.

We kept Bertrand in a stroller until age three, at which point he transitioned to a wheelchair for the school district. We instantly regretted keeping him in a stroller for so long. Granted said stroller was a fantastic, well-rated, highly-recommended Maclaren Techno XLR Stroller (15lb. stroller with 55lb. capacity), but Bertrand has low tone. For a kid with low tone, it just wasn't supportive enough for him to sit in it for long periods of time. He ended up developing scoliosis in part from that stroller.

And then, because we apparently live between a rock and a hard place, I am not entirely sure that the 69 lb. Iris Zippie wheelchair he got was the right one for him. When we went to the Abilities Expo in Atlanta, we saw *dozens* of pediatric wheelchairs. Here in town, the folks at our wheelchair clinic are only experienced with a handful, so those are the only ones they recommend. The Iris Zippie is pretty much the SLC pediatric push wheelchair.

No matter what mobility device (stroller, wheelchair, walker, gait trainer, etc.) you end up getting, I recommend taking your time. Ask around. See if there are ways that you can try before you buy. Or look into getting pediatric equipment second hand. Kids outgrow their stuff. There are FaceBook, Yahoo, and other special needs groups where you can speak with other parents, get their advice or see if there is equipment to borrow or buy.

Like the mom above, it's important to know what your insurance does and doesn't cover.

Back to my original point, here are some simple tips that could help prevent, lessen, or counteract scoliosis for low tone kids that I wish I had known much sooner. (In large part thanks to these measures, Bertrand's spinal curve improved to the point where he no longer needs to wear a back brace.)

Switch the side their car seat is on from time to time. (Most kids lean toward the light. If your kid is in the car any significant period of time, this could contribute to a curve.)

Change the side/direction your child sleeps in bed.

Carry your child on the opposite hip.

Feed your child with your opposite hand/from the opposite direction.

In the stroller or carseat, bolster your child's neck, back, and hips with rolled up blankets, shirts, neck rolls, whatever it takes to help them look aligned. (If you wouldn't want to sit or sleep like that on a plane for hours, it's safe to assume it isn't good for your kid either.)

This is just our family's experience, and we are not medical/developmental professionals. Hopefully, others will chime in and offer more perspectives. :)

April 20, 2013

April 19, 2013

This is a video of the scientists working in Dr. Hudson Freeze's lab at Sanford-Burnham Medical Research Institute. They're talking about their inspiration: the patients with Congenital Disorders of Glycosylation (CDG). CDG is the group of genetic disorders in which Bertrand's disorder, N-glycanase deficiency, roughly fits.

The second person in the video is our beloved Dr. Ping He! He is running most of Bertrand's experiments, and we couldn't be more grateful to him, Hud, and everyone else in the lab.

April 16, 2013

Nothing quite like some adorable kiddos playing together to make things seem right in the world again. The first two videos are of Bertrand and his 5 month-old cousin Gabby playing together. The last video contains some of Bertrand's funny vocalizations; the panting in particular is new within the past month.

April 15, 2013

The preceding communication matrix describes Bertrand's current communicative capabilities. I loosely interpret the results as, "my son is a potential genius trapped in a body that won't do what he wants it to do." You've got to admit, he sure works what he's got! I am absolutely certain that if we can find a way to improve the condition of his nerves and muscles, we'll improve his communication.

April 12, 2013

Victoria turns 2 this Sunday. Where did that time go?! I am continuously reminded of the saying: "the days are long, but the years are short."

I have a funny relationship with my kids birthday parties. It all started with Bertrand's first birthday. Being my typical self, I said, "He's a baby. He doesn't care about parties! He has everything he needs." So, we did a small dinner with family.

We didn't even buy him a present.

A few months later we learned that Bertrand's condition was fatal. He could very likely die before his second birthday. Bertrand could die never having had a birthday party.

This would not do.

I don't know about you, but my birthday parties are some of the most vivid and loved memories of my childhood. Big parties with lots of food are a hispanic tradition.

Bertrand couldn't possibly die without having had one. So, he had a huge 18 month birthday bash. It went against everything in my nature (party person, I am not), but I made sure he had a party all of us would remember.

Since then, Bertrand has had more (in my humble opinion) fabulous birthday parties. And when Victoria came along, we followed the trend. Her first birthday was small but fantastic.

Then this year came along. My wise brother-in-law Steve said that all of his birthday parties were family affairs. What was wrong with that?

What indeed? Nothing. Absolutely nothing.

Matthew is flying out to Germany and will be missing Victoria's actual birthday. A small non-party birthday celebration suited us just fine. Tonight we'll be having a small dinner with family.

I was fine with this, until the last couple of days.

Wednesday night I learned that our dear friends Javier and Noralia's daughter Iara had passed away. I spent the entire evening clutching Bertrand and sobbing. (He was a good sport about this. He kept laughing. I tell myself he was happy that Iara was free.)

I woke up with gritty eyes and a headache the next day with the intention of buying Iara's rose for my garden, but something stopped me. Later that morning, with a sinking feeling, I read about Gavin's condition--multiple seizures and three cardiac arrests in less than 24 hours. My heart was heavy but I knew I'd be ordering another rose.

Typically, I only buy rose plants to memorialize the children I've known in "real life". But even though I haven't physically met Gavin or even Iara, I am more emotionally connected with them and their wonderful parents than with many of our "real life" family and friends. These children and their families are a continuous source of strength and inspiration for me. It's an honor that I get to care for them (even if in a small way) and keep their memory alive.

Its a peculiar, heart-wrenching kind of joy when I see Victoria point to one of my plants and say "flowa fo Nannah" (translation: flower for Hannah). I tell her how Hannah loved the colors pink and yellow--just like Victoria. And how Hannah loved Minnie Mouse, and dancing to music. We go inside and play "Ice Ice Baby" (one of Hannah's favorite song's) and I watch Victoria jump and dance.

While I keep the memories of my precious flowers children alive, and strive to fund and conduct more medical research, I find that the greatest way to honor these children is to Live. I strive to live my life fully, and encourage those around me to do the same. To dare greatly, and achieve, nay, exceed potential. Every day is a gift.

I really wish I was throwing Victoria a big birthday party. I want to celebrate ALL the people I love. For now, I'll settle for lots of hugs and letting the people I love know it. And yes, dear blog reader, I love you too. :)

April 9, 2013

New findings reveal the substantial burden of rare diseases due to lack of resources, financial challenges and emotional unrest

Lexington, Massachusetts, US – April 9, 2013 – Shire plc (LSE: SHP, NASDAQ: SHPG) today launched a Rare Disease Impact Report, which uncovers the health, psycho-social, and economic impact of rare diseases on patient and medical communities in the United States (US) and United Kingdom (UK). The report, developed in collaboration with an external advisory board of thought leaders in the medical, advocacy, health policy and health economics fields, will be distributed at the World Orphan Drug Congress in Washington, DC (April 9-11) and is available for immediate download at www.rarediseaseimpact.com.

According to more than 1,000 survey responses from a multi-stakeholder audience sample, the Rare Disease Impact Report reveals1:

It takes, on average, more than seven years in the US and five years in the UK for a patient with a rare disease to receive a proper diagnosis

On the journey to diagnosis, a patient typically visits up to eight physicians (four primary care and four specialists) and receives two to three misdiagnoses

Physicians (both primary care and specialists) often don't have the time, resources and information to properly diagnose/manage patients with rare diseases, compared to more common diseases

Due to the uncertainty, the lack of available information, resources, and economic strains, rare diseases take a major emotional toll on patients and their caregivers

“This Impact Report brings to light the specific barriers to quality care that exist for patients with rare diseases; particularly the challenges in getting an accurate diagnosis, adequate information and ongoing care,” says Nicole Boice, founder and CEO, Global Genes | RARE Project, a leading rare and genetic disease patient advocacy organization. “I am thrilled that Shire engaged Global Genes in this initiative and hope it will inspire the rare disease community to work together to better meet the needs of rare disease patients and their families.”

Rare diseases are conditions that affect a small portion of the population but are often chronic, progressive, degenerative, life-threatening and disabling.2 While individual rare diseases are uncommon and disparate, collectively, there are approximately 7,000 different types of rare diseases and disorders affecting an estimated 350 million people worldwide.3 Despite the progress that has been made over the past few decades to help improve the quality of life for patients managing these complex diseases, there are still significant gaps in care and barriers facing the community at large.

Across the groups surveyed, findings center around three overarching challenges:

There is a lack of resources and information to address these less common illnesses

Physicians (both primary care and specialists) often don’t have the time, resources and information to properly diagnose/manage patients with rare diseases, compared to more common diseases

The majority of physicians surveyed reported it is more difficult to address the needs of a rare disease patient in a typical office visit (92% in the US, 88% in the UK agreed) and more office visits are required to diagnose a rare disease patient (98% in the US, 96% in the UK agreed)

In addition, more than half of physicians stated there aren’t enough opportunities to network with other physicians who treat rare diseases (54% in the US, 62% in the UK agreed)

From a patient and caregiver perspective, around half of those surveyed stated they received conflicting information from different health care professionals about treatment options (60% in the US, 50% in the UK agreed)

In fact, more than half of patients and caregivers stated they needed to provide their healthcare professionals with information on their rare disease (67% in the US, 62% in the UK agreed)

As a result of these challenges, on average, it takes 7.6 years in the US and 5.6 years in the UK for a patient with a rare disease to receive a proper diagnosis, based on survey results. Along the way, the average patient visits four primary care doctors, four specialists and receives two to three misdiagnoses

The economic impact of diagnosing and managing rare diseases is significant. The journey to diagnosis and beyond comes with a steep price tag for many coping with a rare disease. The long road, which frequently includes numerous tests and physician visits, can become financially overwhelming, particularly for those in the US as compared to the UK

Payor respondents reported several factors contribute to the higher costs of care for rare disease patients compared to more common diseases, including the need for more diagnostic tests (100% in the US, 80% in the UK agreed) and more costly diagnostic tests (100% in the US, 90% in the UK agreed)

Payors also found it difficult to make rare disease coverage decisions due to the lack of standards and guidelines. Almost all payors surveyed indicated there is less information/data available to help determine the standards of care for rare diseases (95% in the US, 90% in the UK agreed)

Although 90% of patients surveyed reported they had health coverage in the US:

55% of US respondents incurred direct medical expenses not covered by insurance compared to 18% of respondents in the UK not covered by the National Health Service

37% of respondents borrowed money from family and/or friends to pay for expenses in the US compared to only 21% of respondents in the UK

Due to the uncertainty, the lack of available information, resources, and economic strains, rare diseases take a major emotional toll on patients

Patient respondents reported several emotional difficulties managing their disease including depression (75% in the US, 69% in the UK agreed), anxiety and stress (86% in the US, 82% in the UK agreed), isolation from friends/family (65% in the US, 57% in the UK agreed), and worry based on future outlook of disease (90% in the US, 91% in the UK agreed)

For those rare disease patients where treatment options are limited, overall they worry more, feel more depressed, interact less and feel more isolated from family and friends, compared to patients with rare diseases for which there are available treatments

Data Collection

In January 2013, Shire HGT conducted online surveys over a four-week period among US and UK rare disease patients and their caregivers; physicians treating patients with rare diseases; payors who handle reimbursements for healthcare plans and government/institutions; and thought leaders in the rare disease space. Surveys were fielded through the market research agency, ORC International and also distributed by advocacy group partners Global Genes and the Genetic Alliance UK.

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Research Fund

The Bertrand Might Research Fund has been established at Sanford Burnham Medical Research Institute, a 501(c)3 charitable organization. Your donation will help Dr. Hudson Freeze’s lab begin to unravel the mystery of N-Glycanase deficiency, and hopefully find a treatment in the near future.

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Now I Can is a nonprofit 501(c)(3) charitable organization dedicated to helping disabled children reach their greatest potential through intensive physical therapy. Bertrand has benefited greatly from sessions there: Oct 2011, Dec 2011, May 2012, Aug 2012. His next session will be in July 2013.

HopeKids provides ongoing events & activities and a powerful, unique support community for families who have a child with cancer or some other life-threatening medical condition.